Class information for:
Level 2: WOLF HIRSCHHORN SYNDROME//HOLOPROSENCEPHALY//ANNALES DE GENETIQUE

Basic class information
ID Publications Average number
of references		 Avg. shr. active
ref. in WoS
409 16055 26.8 67%


Bar chart of Publication_year

Last years might be incomplete

Classes in level above (level 3)


ID, lev.
above		 Publications Label for level above
96 73697 DNA METHYLATION//FRAGILE X SYNDROME//RETT SYNDROME

Classes in level below (level 1)


ID, lev. below Publications Label for level below
5148 1596 MEIOTIC SEGREGATION//SPERM ANEUPLOIDY//SPERM FISH
7426 1289 SUBTELOMERIC REARRANGEMENTS//IDIOPATHIC MENTAL RETARDATION//MBD5
8477 1180 SATELLITE DNA//HIGHER ORDER REPEATS//SATELLITE DNA EVOLUTION
9916 1044 CONFINED PLACENTAL MOSAICISM//UNIPARENTAL DISOMY//TRISOMY 9
10496 992 SPECTRAL SIMILARITY MAPPING//FAST FISH//CHROMOSOME SPREADING
11024 948 HOLOPROSENCEPHALY//OTOCEPHALY//HPE
14697 686 RING CHROMOSOME 21//MONOSOMY 21//RING CHROMOSOME 15
15062 664 TRISOMY 9P//TETRASOMY 9P//PARTIAL TRISOMY 7P
15388 644 DOUBLE ANEUPLOIDY//NONDISJUNCTION//48 XXY 21
16548 582 PRODUCTS OF CONCEPTION//RECURRENT MISCARRIAGE//RECURRENT PREGNANCY LOSS PROGRAM
16716 575 CRI DU CHAT SYNDROME//CRI DU CHAT//3P DELETION SYNDROME
17533 531 WOLF HIRSCHHORN SYNDROME//4P DELETION//PITT ROGERS DANKS SYNDROME
17852 516 CAT EYE SYNDROME//SUPERNUMERARY MARKER CHROMOSOMES//SMALL SUPERNUMERARY MARKER CHROMOSOME
18397 488 PITT HOPKINS SYNDROME//18Q DELETION SYNDROME//18Q SYNDROME
19199 451 PARTIAL DUPLICATION 9Q//CHROMOSOME VARIANT//CHROMOSOME 9
20347 402 SATB1//2Q DELETION//SATB2
20586 393 JUMPING TRANSLOCATION//INTERSTITIAL TELOMERIC SEQUENCES//TELOMERE ASSOCIATION
21324 364 QF PCR//UNCULTURED AMNIOCYTES//RAPID ANEUPLOIDY DETECTION
21503 358 RUBINSTEIN TAYBI SYNDROME//CORNEAL KELOID//TRISOMY 16Q
22276 330 COMPLEX CHROMOSOMAL REARRANGEMENT//COMPLEX CHROMOSOME REARRANGEMENT CCR//COMPLEX CHROMOSOMAL REARRANGEMENTS
23451 290 HETEROCHROMATINIZATION//SATELLITE ASSOCIATION//ECTOPIC NUCLEOLUS ORGANIZER REGION
23683 283 SMITH MAGENIS SYNDROME//RAI1//POTOCKI LUPSKI SYNDROME
24599 257 PALLISTER KILLIAN SYNDROME//TETRASOMY 12P//TRISOMY 12P
25018 245 CHROMOSOME 6Q DELETION//SIM1 GENE//6Q DELETION
25281 237 TRISOMY 18//TRISOMY 13//PATAU SYNDROME
27196 193 TRISOMY 10Q//MONOSOMY 10Q//10P TRISOMY
27301 191 JACOBSEN SYNDROME//11Q SYNDROME//11Q TERMINAL DELETION DISORDER
28127 174 PULMONARY AGENESIS//LUNG AGENESIS//PARTIAL TRISOMY 2P
29431 152 PELGER HUET ANOMALY//PELGER HUET//INTERSTITIAL 1Q DELETION

Terms with highest relevance score


Rank Term Type of term Relevance score
(tfidf)		 Class's shr.
of term's tot.
occurrences		 Shr. of publ.
in class containing
term		 Num. of publ.
in class
1 WOLF HIRSCHHORN SYNDROME Author keyword 282 90% 1% 121
2 HOLOPROSENCEPHALY Author keyword 261 61% 2% 274
3 ANNALES DE GENETIQUE Journal 243 41% 3% 466
4 PALLISTER KILLIAN SYNDROME Author keyword 219 97% 0% 63
5 AMERICAN JOURNAL OF MEDICAL GENETICS PART A Journal 184 18% 6% 929
6 AMERICAN JOURNAL OF MEDICAL GENETICS Journal 166 13% 7% 1162
7 ARRAY CGH Author keyword 156 34% 2% 371
8 MOSAICISM Author keyword 148 33% 2% 369
9 CONFINED PLACENTAL MOSAICISM Author keyword 127 83% 0% 72
10 PRENATAL DIAGNOSIS Journal 110 14% 5% 736

Web of Science journal categories

Author Key Words


Rank Web of Science journal category Relevance score
(tfidf)		 Class's shr.
of term's tot.
occurrences		 Shr. of publ.
in class containing
term		 Num. of
publ. in
class		 LCSH search Wikipedia search
1 WOLF HIRSCHHORN SYNDROME 282 90% 1% 121 Search WOLF+HIRSCHHORN+SYNDROME Search WOLF+HIRSCHHORN+SYNDROME
2 HOLOPROSENCEPHALY 261 61% 2% 274 Search HOLOPROSENCEPHALY Search HOLOPROSENCEPHALY
3 PALLISTER KILLIAN SYNDROME 219 97% 0% 63 Search PALLISTER+KILLIAN+SYNDROME Search PALLISTER+KILLIAN+SYNDROME
4 ARRAY CGH 156 34% 2% 371 Search ARRAY+CGH Search ARRAY+CGH
5 MOSAICISM 148 33% 2% 369 Search MOSAICISM Search MOSAICISM
6 CONFINED PLACENTAL MOSAICISM 127 83% 0% 72 Search CONFINED+PLACENTAL+MOSAICISM Search CONFINED+PLACENTAL+MOSAICISM
7 QF PCR 96 76% 0% 68 Search QF+PCR Search QF+PCR
8 SMITH MAGENIS SYNDROME 92 72% 0% 73 Search SMITH+MAGENIS+SYNDROME Search SMITH+MAGENIS+SYNDROME
9 INTERSTITIAL DELETION 91 66% 1% 84 Search INTERSTITIAL+DELETION Search INTERSTITIAL+DELETION
10 UNIPARENTAL DISOMY 83 43% 1% 150 Search UNIPARENTAL+DISOMY Search UNIPARENTAL+DISOMY

Key Words Plus


Rank Web of Science journal category Relevance score
(tfidf)		 Class's shr.
of term's tot.
occurrences		 Shr. of publ.
in class containing
term		 Num. of
publ. in
class
1 IDIOPATHIC MENTAL RETARDATION 241 79% 1% 157
2 TERMINAL DELETION 208 74% 1% 153
3 INTERSTITIAL DELETION 165 42% 2% 307
4 NONDISJUNCTION 145 42% 2% 262
5 SUBTELOMERIC REARRANGEMENTS 130 84% 0% 70
6 UNCULTURED AMNIOCYTES 118 83% 0% 67
7 TRISOMY 117 50% 1% 167
8 PARTIAL TRISOMY 116 67% 1% 106
9 CYCLOPIA 113 84% 0% 62
10 LONG ARM 112 24% 3% 413

Journals


Rank Web of Science journal category Relevance score
(tfidf)		 Class's shr.
of term's tot.
occurrences		 Shr. of publ.
in class containing
term		 Num. of publ.
in class
1 ANNALES DE GENETIQUE 243 41% 3% 466
2 AMERICAN JOURNAL OF MEDICAL GENETICS PART A 184 18% 6% 929
3 AMERICAN JOURNAL OF MEDICAL GENETICS 166 13% 7% 1162
4 PRENATAL DIAGNOSIS 110 14% 5% 736
5 GENETIC COUNSELING 82 28% 2% 250
6 JOURNAL OF MEDICAL GENETICS 81 12% 4% 653
7 EUROPEAN JOURNAL OF MEDICAL GENETICS 77 26% 2% 257
8 MOLECULAR CYTOGENETICS 75 40% 1% 147
9 CLINICAL GENETICS 71 12% 4% 569
10 CYTOGENETICS AND CELL GENETICS 41 11% 2% 360

Reviews


Title Publ. year Cit. Active references % act. ref.
to same field
Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis 2013 26 29 93%
OPTIMIZING COMPARATIVE GENOMIC HYBRIDIZATION FOR ANALYSIS OF DNA-SEQUENCE COPY NUMBER CHANGES IN SOLID TUMORS 1994 857 13 46%
Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis 2011 85 20 65%
Additional information from chromosomal microarray analysis (CMA) over conventional karyotyping when diagnosing chromosomal abnormalities in miscarriage: a systematic review and meta-analysis 2014 6 16 94%
Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans 2015 2 139 40%
Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects 2009 86 28 75%
Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation 2007 153 54 59%
Reliability of 46, XX results on miscarriage specimens: a review of 1,222 first-trimester miscarriage specimens 2014 5 16 88%
Array comparative genomic hybridization and fetal congenital heart defects: a systematic review and meta-analysis 2015 1 46 70%
Genomic Microarrays in Mental Retardation: A Practical Workflow for Diagnostic Applications 2009 79 51 69%

Address terms


Rank Address term Relevance score
(tfidf)		 Class's shr.
of term's tot.
occurrences		 Shr. of publ.
in class containing
term		 Num. of
publ. in
class
1 CYTOGENET 93 17% 3.0% 483
2 CLIN COMMUNITY HLTH NURSING 41 34% 0.6% 99
3 BIOMETRY SECT 17 57% 0.1% 20
4 WESSEX REG GENET 16 20% 0.5% 75
5 UNITAT BIOL 15 49% 0.1% 23
6 UNITAT BIOL CELLULAR 15 35% 0.2% 35
7 SERV CYTOGENET CYTOL BIOL REPROD 12 37% 0.2% 26
8 SIGNATURE GENOM S 12 36% 0.2% 27
9 MED GENET BRANCH 11 13% 0.5% 78
10 CITOGENET MED GENET MOL 11 69% 0.1% 9

Related classes at same level (level 2)


Rank Relatedness score Related classes
1 0.0000019764 PRADER WILLI SYNDROME//ANGELMAN SYNDROME//PAR 4
2 0.0000019744 MICROBIAL BIOTECHNOL CELL BIOL//INTERPHASE CHROMATIN//BARLEY CHROMOSOME
3 0.0000015890 KABUKI SYNDROME//KABUKI MAKE UP SYNDROME//TRICHORHINOPHALANGEAL SYNDROME
4 0.0000012680 NUCHAL TRANSLUCENCY//FREE BETA HCG//PAPP A
5 0.0000012675 TURNER SYNDROME//SRY//TURNERS SYNDROME
6 0.0000011519 RBM5//MEIOTIC DRIVE//HUMAN CHROMOSOME 3
7 0.0000010965 SOTOS SYNDROME//WEAVER SYNDROME//CEREBRAL GIGANTISM
8 0.0000010644 CHROMATIN SUPRAORGANIZATION//ZNF703//NUCLEAR PHENOTYPES
9 0.0000009193 VELOCARDIOFACIAL SYNDROME//DIGEORGE SYNDROME//PSEUDOHYPOPARATHYROIDISM
10 0.0000009006 SMITH LEMLI OPITZ SYNDROME//INCONTINENTIA PIGMENTI//CHONDRODYSPLASIA PUNCTATA